{
    "disease_id": "DOID:0080223",
    "recommended_name": {
        "id": "DOID:0080223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080223",
        "name": "epidermolytic palmoplantar keratoderma",
        "description": "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles."
    },
    "synonyms": [
        {
            "id": "DOID:0080223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080223",
            "name": "EPPK",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma, 1",
            "description": "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas."
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "EPPK",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, VC6rner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Voerner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of VC6rner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Voerner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Vrner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Vrner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localized epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis, localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "palmoplantar keratoderma, epidermolytic",
            "description": ""
        },
        {
            "id": "MIM:144200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/144200",
            "name": "Palmoplantar keratoderma, epidermolytic, 1",
            "description": "Palmoplantar keratoderma, epidermolytic, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070551",
            "label": "epidermolytic palmoplantar keratoderma 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070552",
            "label": "epidermolytic palmoplantar keratoderma 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070551",
        "DOID:0080223",
        "DOID:0070552"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080223",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080223",
            "categories": []
        },
        {
            "id": "MONDO:0007758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "categories": []
        },
        {
            "id": "MIM:144200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/144200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35527-1",
            "uniprot_ac": "P35527",
            "uniprot_id": "K1C9_HUMAN",
            "refseq_ac": "NP_000217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-9",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 9",
                    "type": "synonym"
                },
                {
                    "name": "keratin 9, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 9",
                    "type": "synonym"
                },
                {
                    "name": "type I cytoskeletal 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "EPPK",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "KRT9",
                    "type": "synonym"
                }
            ],
            "record_id": "P35527-1",
            "evidence": [
                {
                    "id": "144200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/144200"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080223"
}